Mus musculus Protein: Pitx3 | |||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||
InnateDB Protein | IDBP-172276.6 | ||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||
Gene Symbol | Pitx3 | ||||||||||||||||||||||||
Protein Name | paired-like homeodomain transcription factor 3 | ||||||||||||||||||||||||
Synonyms | ak; Ptx3; | ||||||||||||||||||||||||
Species | Mus musculus | ||||||||||||||||||||||||
Ensembl Protein | ENSMUSP00000026259 | ||||||||||||||||||||||||
InnateDB Gene | IDBG-172274 (Pitx3) | ||||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||||
Function | Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. In addition to its importance during development, it also has roles in the long-term survival and maintenance of the mdDA neurons. Activates NR4A2/NURR1- mediated transcription of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons. Acts by decreasing the interaction of NR4A2/NURR1 with the corepressor NCOR2/SMRT which acts through histone deacetylases (HDACs) to keep promoters of NR4A2/NURR1 target genes in a repressed deacetylated state. Essential for the normal lens development and differentiation. Plays a critical role in the maintenance of mitotic activity of lens epithelial cells, fiber cell differentiation and in the control of the temporal and spatial activation of fiber cell-specific crystallins. Positively regulates FOXE3 expression and negatively regulates PROX1 in the anterior lens epithelium, preventing activation of CDKN1B/P27Kip1 and CDKN1C/P57Kip2 and thus maintains lens epithelial cells in cell cycle. {ECO:0000269PubMed:15950611, ECO:0000269PubMed:17184956, ECO:0000269PubMed:19007884, ECO:0000269PubMed:19144721, ECO:0000269PubMed:19334279}. | ||||||||||||||||||||||||
Subcellular Localization | Nucleus {ECO:0000255PROSITE- ProRule:PRU00108, ECO:0000255PROSITE-ProRule:PRU00138, ECO:0000269PubMed:17184956}. | ||||||||||||||||||||||||
Disease Associations | Note=Mutations in Pitx3 appear to be the cause of the aphakia (ak) phenotype, a recessive homozygous disease characterized by small eyes and closed eyelids. {ECO:0000269PubMed:19334279}. | ||||||||||||||||||||||||
Tissue Specificity | Highly expressed in developing eye lens. Expression is restricted to the substantia nigra and ventral tegmental area in the midbrain. {ECO:0000269PubMed:15950611, ECO:0000269PubMed:19007884}. | ||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||
PDB ID | MGI:1100498 | ||||||||||||||||||||||||
InterPro |
IPR001356
Homeobox domain IPR003654 OAR domain IPR009057 Homeodomain-like IPR016233 Homeobox protein Pitx/unc30 |
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PFAM |
PF00046
PF03826 |
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PRINTS | |||||||||||||||||||||||||
PIRSF |
PIRSF000563
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SMART |
SM00389
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TIGRFAMs | |||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||
SwissProt | O35160 | ||||||||||||||||||||||||
PhosphoSite | PhosphoSite- | ||||||||||||||||||||||||
TrEMBL | G3UZN3 | ||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||
Entrez Gene | 18742 | ||||||||||||||||||||||||
UniGene | Mm.6255 | ||||||||||||||||||||||||
RefSeq | NP_032878 | ||||||||||||||||||||||||
MGI ID | |||||||||||||||||||||||||
MGI Symbol | Pitx3 | ||||||||||||||||||||||||
OMIM | |||||||||||||||||||||||||
CCDS | CCDS29872 | ||||||||||||||||||||||||
HPRD | |||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||
EMBL | AC140233 AF005772 BC120844 BC137810 | ||||||||||||||||||||||||
GenPept | AAB87380 AAI20845 AAI37811 | ||||||||||||||||||||||||